Research Centre for Medical Genetics
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Moscow 115522, Russian Federation
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Research on molecular mechanism of Becker myotonia development

Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation.  Myotonia congenita can be inherited in autosomal dominant (Thomsen disease) and autosomal recessive form (Becker disease) and both are caused by pathogenic variants in the CLCN1 gene.

A patient with a clinical diagnosis of Becker myotonia was examined at the Research Centre for Medical Genetics. Sanger sequencing of the CLCN1 gene found a variant of clear clinical significance c.1582+5G>A in the homozygous state. Functional analysis of the variant under study discovered that the examined variant affected CLCN1 pre-mRNA splicing and was a loss-of-function (LoF) variant, which was consistent with the molecular pathogenesis of Becker myotonia.

The researchers of the Functional Genomics laboratory, DNA diagnostics lab, and physicians of the FBSI RCMG Research and Counselling Department conducted the research.

Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali & Mikhail Skoblov. Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. BMC Medical Genetics. 21, 197 (2020). https://doi.org/10.1186/s12881-020-01128-5 (IF – 1.74, Q3)

https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01128-5